Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs730880268(-;-)
Make rs730880268(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position74920649
GeneUSH1G
is asnp
is mentioned by
dbSNPrs730880268
dbSNP (classic)rs730880268
ClinGenrs730880268
ebirs730880268
HLIrs730880268
Exacrs730880268
Gnomadrs730880268
Varsomers730880268
LitVarrs730880268
Maprs730880268
PheGenIrs730880268
Biobankrs730880268
1000 genomesrs730880268
hgdprs730880268
ensemblrs730880268
geneviewrs730880268
scholarrs730880268
googlers730880268
pharmgkbrs730880268
gwascentralrs730880268
openSNPrs730880268
23andMers730880268
SNPshotrs730880268
SNPdbers730880268
MSV3drs730880268
GWAS Ctlgrs730880268
Max Magnitude0
ClinVar
Risk rs730880268(-;-)
Alt rs730880268(-;-)
Reference Rs730880268(CA;CA)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH1G
CLNDBN Usher syndrome, type 1G
Reversed 1
HGVS NC_000017.10:g.72916744_72916745delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003049.3,